Decoding Hemophilia A: A Genomic Approach
Researcher Patricia Viera has developed a cutting-edge bioinformatics pipeline aimed at detecting pathogenic variants in the F8 gene, which is responsible for Hemophilia A, the most common X-linked hereditary coagulation disorder. The project utilized advanced next-generation sequencing (NGS) technologies and bioinformatic tools such as BWA, Samtools, GATK, and Annovar to map, filter, and identify genetic variants associated with different severity levels of the disorder.